METTL26methyltransferase like 26
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
2 / 0Aliases
METTL26, C16orf13, JFP2Associated Syndromes
-Chromosome Band
16p13.3Associated Disorders
-Relevance to Autism
A de novo splice-site variant in the METTL26 gene (previously known as C16orf13) was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a paternally-transmitted frameshift variant in this gene was observed in all three affected siblings in a mulitplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified METTL26 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
External Links
SFARI Genomic Platforms
Reports related to METTL26 (2 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 2 | Recent Recommendation | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
Rare Variants (2)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.198-2A>C | - | splice_site_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.185_186insGCCCACGGGCCCAC | p.Cys63ProfsTer19 | frameshift_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
A de novo splice-site variant in the METTL26 gene (previously known as C16orf13) was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a paternally-transmitted frameshift variant in this gene was observed in all three affected siblings in a mulitplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified METTL26 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
A de novo splice-site variant in the METTL26 gene (previously known as C16orf13) was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a paternally-transmitted frameshift variant in this gene was observed in all three affected siblings in a mulitplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified METTL26 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
10/1/2019
Decreased from 4 to 3
New Scoring Scheme
Description
A de novo splice-site variant in the METTL26 gene (previously known as C16orf13) was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a paternally-transmitted frameshift variant in this gene was observed in all three affected siblings in a mulitplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified METTL26 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Reports Added
[New Scoring Scheme]7/1/2019
Increased from to 4
Description
A de novo splice-site variant in the METTL26 gene (previously known as C16orf13) was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a paternally-transmitted frameshift variant in this gene was observed in all three affected siblings in a mulitplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified METTL26 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
CNVs associated with METTL26(1 CNVs)
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| 16p13.3 | 73 | Deletion-Duplication | 103 / 544 |